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Welcome to the National Rare Diseases Biobank (BioNER) portal, an infrastructure supporting biomedical research that provides high-quality biological samples to advance knowledge of rare diseases and promote the development of new diagnostic and therapeutic strategies.

The Carlos III Health Institute (ISCIII) is the owner of the National Rare Diseases Biobank (BioNER), whose scientific, technical, and operational management is the responsibility of the Institute for Rare Diseases Research (IIER). BioNER has been authorized and registered in the National Registry of Biobanks for Biomedical Research under registration number B.0000886 since 14 November 2013. It carries out its activities in accordance with Law 14/2007 of 3 July on Biomedical Research and Royal Decree 1716/2011 of 18 November, which establishes the basic requirements for the authorization and operation of biobanks for biomedical research purposes and for the processing of biological samples of human origin.

Furthermore, the processing of personal data associated with biological samples is carried out in compliance with Regulation (EU) 2016/679 of the European Parliament and of the Council (General Data Protection Regulation, GDPR) and Organic Law 3/2018 of 5 December on Personal Data Protection and the Guarantee of Digital Rights (LOPDGDD), ensuring the confidentiality, security, traceability, and integrity of the information managed.

Information

The National Rare Diseases Biobank (BioNER) originated from the biobank established during the Toxic Oil Syndrome epidemic, created in collaboration with the World Health Organization (WHO) and the biobank of the Centers for Disease Control and Prevention (CDC, USA). Subsequently, it expanded its activities within the framework of the European EuroBioBank project, becoming part of the first and only European consortium of biobanks specialized in rare diseases.

Between 2006 and 2010, EuroBioBank received funding from the Sixth Framework Programme through the European project TREAT-NMD, aimed at promoting the diagnosis, clinical care, and development of treatments for neuromuscular diseases. Subsequently, BioNER became an associate member of the RD-CONNECT project under the Seventh Framework Programme, an initiative focused on integrating information from databases, patient registries, biobanks, and omics data related to rare diseases.

In this context, the Institute for Rare Diseases Research (IIER) has played an active role in promoting interoperability among European, American, and Australian biobanks participating in the project and committed to the objectives of the International Rare Diseases Research Consortium (IRDiRC). Furthermore, between 2010 and 2020, BioNER was an associate member of the ISCIII National Biobank Network.

At present, and since 2021, the National Rare Diseases Biobank (BioNER) has been part of the ISCIII Biobanks and Biomodels Platform, integrated within the scientific and technological HUBs. In this context, BioNER participates in both the Biobanks HUB and the Organoids HUB through the projects PT20CIII/00009 – Biobanks and Biomodels Platform: Organoids of the IIER and PT23CIII/00003 – Biobanks and Biomodels Platform for Rare and Ultra-Rare Diseases – BB-IIER Unit.

The incorporation into this platform has strengthened BioNER's scientific and technical capabilities, expanding the services provided to the research community through the management of biological sample collections for rare diseases and the development of advanced biomodels, including patient-derived organoids and rare disease models in Drosophila melanogaster.

In addition, BioNER's participation in the ISCIII platform promotes collaboration with other national and international infrastructures and contributes to the integration of Spanish collections into BBMRI-ERIC (Biobanking and BioMolecular Resources Research Infrastructure – European Research Infrastructure Consortium), fostering the harmonization of quality standards, knowledge exchange, and scientific collaboration among European biobanks and research institutions.

BioNER promotes the interoperability of donor data with the Rare Diseases Patient Registry (RePER), providing the support and resources necessary for patient enrolment in the registry.

BioNER works closely with the Undiagnosed Rare Diseases Patient Program (SpainUDP) through the reception, processing, storage, and management of biological samples from patients enrolled in the program. SpainUDP is focused on the multidisciplinary study of complex cases of undiagnosed rare diseases, integrating advanced genomic technologies (whole-exome and whole-genome sequencing, transcriptomics), multi-omics analyses, functional studies, and collaboration with national and international centers to improve the diagnosis and understanding of these diseases.

Furthermore, BioNER, the SpainUDP Program, and the Rare Diseases Patient Registry (RePER) maintain close coordination with the Spanish National Health System (SNS), providing support to patients and healthcare professionals through the integrated management of biological samples, phenotypic information, and genetic data. This collaboration facilitates diagnosis, advances biomedical research, and promotes the development of new diagnostic and therapeutic strategies for rare diseases.

The National Rare Diseases Biobank (BioNER) operates through two facilities within the Carlos III Health Institute (ISCIII), both located in the Community of Madrid and integrated into the Institute for Rare Diseases Research (IIER). The administrative and coordination headquarters is located at the Chamartín Campus (C/ Sinesio Delgado 4, Madrid), from where the biobank's coordination activities are managed.

The Majadahonda facility (Carretera de Majadahonda-Pozuelo km 2.2, 28220 Majadahonda) houses the laboratories dedicated to the processing of biological samples, as well as the facilities for their storage and preservation under controlled conditions. These facilities ensure compliance with the quality and safety standards established for biomedical research biobanks.

Objetives

The National Rare Diseases Biobank (BioNER) aims to make available to the scientific community a catalogue of high-quality biological samples linked to clinical and epidemiological information on rare diseases. These resources support research, advance understanding of the pathophysiological basis of rare diseases, and contribute to the development of new diagnostic and therapeutic strategies that improve patients' quality of life.

To achieve this objective, BioNER carries out the following activities:

  • Maintaining a catalogue of biological samples obtained from individuals affected by rare diseases, healthy individuals used as controls, relatives of patients, and individuals diagnosed with Autism Spectrum Disorders (ASD).
  • Promoting the integration of biological collections with national rare disease registries and other research infrastructures.
  • Ensuring the preservation of samples under strict quality standards, guaranteeing traceability, donor confidentiality, and the protection of associated data.
  • Fostering collaboration among national and international research groups, as well as networks and consortia of biobanks specialized in rare diseases.
  • Providing biological samples to national and international research groups, subject to favorable scientific and ethical evaluation of the proposed projects by the competent BioNER committees.
  • Ensuring compliance with current legislation and with the ethical and legal requirements applicable to the collection, storage, transfer, and distribution of biological samples for research purposes.

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